Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

The identification of the m.12207G > A variant in MT-TS2, (NC_012920.1:m.12207G > A) was first reported in 2006. The affected individual presented with developmental delay, feeding difficulty, proximal muscle weakness, and lesions within her basal ganglia, with heteroplasmy levels of 92% in mu...

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Bibliographic Details
Main Authors: Sayaka Suzuki-Ajihara, Megumi Saito-Tsuruoka, Hiroko Harashima, Katsumi Arai, Hiroyoshi Koide, Yukiko Yatsuka, Atsuko Imai-Okazaki, Yasushi Okazaki, Kei Murayama, Chikahiko Numakura, Yuko Akioka, Akira Ohtake
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
M.12207G > A MT-TS2
Deafness
Epilepsy
Diabetes mellitus
Maternal inheritance
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000125

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http://www.sciencedirect.com/science/article/pii/S2214426923000125

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